Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Or4a81'

246105

Institutional Source

Beutler Lab

Gene Symbol

Or4a81

Ensembl Gene

ENSMUSG00000075074

Gene Name

olfactory receptor family 4 subfamily A member 81

Synonyms

Olfr1254, GA_x6K02T2Q125-51230155-51229211, MOR231-13

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89618750-89619694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89619522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 58 (Y58C)

Ref Sequence

ENSEMBL: ENSMUSP00000149507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099764] [ENSMUST00000111523] [ENSMUST00000216587]

AlphaFold

Q8VFB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099764
AA Change: Y58C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097352
Gene: ENSMUSG00000075074
AA Change: Y58C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	9.7e-30	PFAM
Pfam:7tm_4	137	278	1.3e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111523
AA Change: Y58C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107148
Gene: ENSMUSG00000075074
AA Change: Y58C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.4e-46	PFAM
Pfam:7tm_1	39	285	5.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216587
AA Change: Y58C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably damaging	Het

Other mutations in Or4a81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Or4a81	APN	2	89,619,129 (GRCm39)	missense	probably damaging	1.00
IGL02822:Or4a81	APN	2	89,619,444 (GRCm39)	missense	possibly damaging	0.56
R1166:Or4a81	UTSW	2	89,619,675 (GRCm39)	missense	possibly damaging	0.74
R1639:Or4a81	UTSW	2	89,619,589 (GRCm39)	missense	probably damaging	1.00
R2248:Or4a81	UTSW	2	89,619,524 (GRCm39)	missense	possibly damaging	0.59
R2256:Or4a81	UTSW	2	89,618,814 (GRCm39)	missense	probably benign
R4432:Or4a81	UTSW	2	89,619,078 (GRCm39)	missense	possibly damaging	0.76
R4649:Or4a81	UTSW	2	89,619,637 (GRCm39)	missense	probably benign	0.19
R4788:Or4a81	UTSW	2	89,619,480 (GRCm39)	missense	probably damaging	1.00
R6454:Or4a81	UTSW	2	89,619,522 (GRCm39)	missense	probably damaging	0.97
R6591:Or4a81	UTSW	2	89,619,332 (GRCm39)	nonsense	probably null
R6691:Or4a81	UTSW	2	89,619,332 (GRCm39)	nonsense	probably null
R7418:Or4a81	UTSW	2	89,619,320 (GRCm39)	nonsense	probably null
R7451:Or4a81	UTSW	2	89,619,453 (GRCm39)	missense	probably benign
R8024:Or4a81	UTSW	2	89,619,390 (GRCm39)	missense	probably benign	0.07
R8080:Or4a81	UTSW	2	89,618,971 (GRCm39)	missense	possibly damaging	0.78
R8251:Or4a81	UTSW	2	89,619,567 (GRCm39)	missense	probably damaging	1.00
R8318:Or4a81	UTSW	2	89,619,321 (GRCm39)	missense	possibly damaging	0.60
R8475:Or4a81	UTSW	2	89,619,586 (GRCm39)	missense	probably benign	0.01
R9166:Or4a81	UTSW	2	89,619,291 (GRCm39)	missense	probably damaging	1.00
R9460:Or4a81	UTSW	2	89,618,778 (GRCm39)	missense	probably benign
R9474:Or4a81	UTSW	2	89,619,506 (GRCm39)	nonsense	probably null
R9677:Or4a81	UTSW	2	89,619,161 (GRCm39)	missense	possibly damaging	0.95
X0022:Or4a81	UTSW	2	89,619,075 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTACCAGAAGGAAGATCTCAG -3'
(R):5'- GTTCACAATTAATGGCAAGTCCTG -3'

Sequencing Primer
(F):5'- AGGAAGATCTCAGTTGCACC -3'
(R):5'- CTTGTCTCTGAAATAAGCCTCATAAG -3'

Posted On

2014-10-30